L163P (p.Leu163Pro) variant of VHL (P40337)
L163P (p.Leu163Pro) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing. The record also includes published literature and structural context.
L163P (p.Leu163Pro) variant details
- p.Leu163Pro
- rs28940297
- ClinGen CA020423
- NCI-TCGA Cosmic COSV5654
- cosmic curated COSV56546
- Pathogenic/Likely pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Pathogenic (in RCC)
- UniProt: Pathogenic (in RCC)
- Structural context available
- Cited in: Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal… (PMID 11986208)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)